Associated Papers
Phenylbutyrate for monogenetic epilepsy: Literature review.
Stone A et al.
Epilepsy Research, 2025
Dravet syndrome: novel insights into SCN1A-mediated epileptic neurodevelopmental disorders within the molecular diagnostic-therapeutic framework.
Zhang G et al.
Frontiers in Neuroscience, 2025
SCN1A gain-of-function mutation causing an early onset epileptic encephalopathy.
Clatot J et al.
Epilepsia, 2023
The fascinating phenotypic spectrum of SCN1A gain-of-function epilepsies.
Scheffer IE
Epilepsia, 2023
Biophysical characterization and modelling of SCN1A gain-of-function predicts interneuron hyperexcitability and a predisposition to network instability through homeostatic plasticity.
Berecki G et al.
Neurobiology of Disease, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
Presenting Patterns of Genetically Determined Developmental Encephalopathies With Epilepsy and Movement Disorders: A Single Tertiary Center Retrospective Cohort Study.
Mastrangelo M et al.
Frontiers in Neurology, 2022
Genetic Diagnosis in Children with Epilepsy and Developmental Disorders by Targeted Gene Panel Analysis in a Developing Country.
Rahman MM et al.
Journal of Epilepsy Research, 2021
Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.
Menezes LFS et al.
Frontiers in Pharmacology, 2020
Role of the voltage sensor module in Nav domain IV on fast inactivation in sodium channelopathies: The implication of closed-state inactivation.
Nakajima T et al.
Channels (austin, Tex.), 2019
Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations.
Alame S et al.
Case Reports in Medicine, 2019
Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.
Nair P et al.
Molecular Genetics & Genomic Medicine, 2018
Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel.
Butler KM et al.
Pediatric Neurology, 2017
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.
Walsh R et al.
Journal of Medical Genetics, 2014
De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.
Heron SE et al.
Journal of Medical Genetics, 2010
Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity.
Kanai K et al.
Journal of Medical Genetics, 2009
The spectrum of SCN1A-related infantile epileptic encephalopathies.
Harkin LA et al.
Brain : a Journal of Neurology, 2007
Case Series of Early SCN1A-Related Developmental and Epileptic Encephalopathies.
Gowda VK et al.
Journal of Pediatric Neurosciences, 0
Gaining Awareness of Increasingly Persistent SCN1A Mutations.
Wong JC
Epilepsy Currents, 0
Dravet syndrome therapeutics: where are we, what works, and what's next?
Bagchi VA et al.
Expert Opinion on Pharmacotherapy, 0